OXLD1[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	AATK, ACTG1 +387 more	Copy number gain	See cases	GPathogenic
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 149717	GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3	AATK, ACTG1 +262 more	Copy number gain	See cases	GPathogenic
Select item 153720	GRCh38/hg38 17q25.3(chr17:81401966-83084062)x1	ACTG1, ALYREF +226 more	Copy number loss	See cases	GLikely pathogenic
Select item 2369136	NM_001039842.3(OXLD1):c.398C>G (p.Ala133Gly)	OXLD1 (A123G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2394000	NM_001039842.3(OXLD1):c.367G>A (p.Glu123Lys)	OXLD1 (E113K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2510022	NM_001039842.3(OXLD1):c.281G>A (p.Gly94Asp)	OXLD1 (G84D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2314741	NM_001039842.3(OXLD1):c.131A>G (p.His44Arg)	OXLD1 (H44R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3207573	NM_001039842.3(OXLD1):c.95A>G (p.Gln32Arg)	LOC130061961, OXLD1 (Q22R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2382515	NM_001039842.3(OXLD1):c.67C>G (p.Arg23Gly)	LOC130061961, OXLD1 (R13G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2302769	NM_001039842.3(OXLD1):c.65C>T (p.Ala22Val)	LOC130061961, OXLD1 (A22V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3243134	NC_000017.10:g.(?_79477716)_(80901020_?)dup	ACTG1, ALYREF +52 more	Duplication	not provided	GUncertain significance
Select item 2685609	GRCh37/hg19 17q25.3(chr17:79128754-80092824)x1	AATK, ACTG1 +41 more	Copy number loss	not provided	GLikely pathogenic
Select item 2445210	Single allele	FOXK2, GCGR +51 more	Deletion	See cases	GPathogenic
Select item 2425656	NC_000017.10:g.(?_79618104)_(79894690_?)dup	ALYREF, ANAPC11 +17 more	Duplication	not provided	GUncertain significance
Select item 2424500	NC_000017.10:g.(?_79477716)_(80900339_?)dup	MAFG, MCRIP1 +52 more	Duplication	not provided	GUncertain significance
Select item 2424499	NC_000017.10:g.(?_79618104)_(79674270_?)del	ARL16, CCDC137 +4 more	Deletion	not provided	GPathogenic
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	CANT1, CARD14 +146 more	Copy number gain	not provided	GPathogenic
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 687727	GRCh37/hg19 17q25.3(chr17:78608912-81041938)x3	AATK, ACTG1 +65 more	Copy number gain	not provided	GPathogenic
Select item 687541	GRCh37/hg19 17q25.3(chr17:79496613-79693150)x3	ARL16, CCDC137 +9 more	Copy number gain	not provided	GUncertain significance
Select item 686094	GRCh37/hg19 17q25.3(chr17:79531886-79685043)x1	ARL16, CCDC137 +7 more	Copy number loss	not provided	GUncertain significance
Select item 564476	GRCh37/hg19 17q25.3(chr17:76552611-81041938)x3	AATK, ACTG1 +88 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

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Items: 32